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NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe) AND Severe myoclonic epilepsy in infancy

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Apr 17, 2013
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000059463.4

Allele description [Variation Report for NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)]

NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)

Gene:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe)
HGVS:
  • NC_000002.12:g.166046931C>A
  • NG_011906.1:g.31709G>T
  • NM_001165963.4:c.1216G>TMANE SELECT
  • NM_001165964.3:c.1216G>T
  • NM_001202435.3:c.1216G>T
  • NM_001353948.2:c.1216G>T
  • NM_001353949.2:c.1216G>T
  • NM_001353950.2:c.1216G>T
  • NM_001353951.2:c.1216G>T
  • NM_001353952.2:c.1216G>T
  • NM_001353954.2:c.1216G>T
  • NM_001353955.2:c.1216G>T
  • NM_001353957.2:c.1216G>T
  • NM_001353958.2:c.1216G>T
  • NM_001353960.2:c.1216G>T
  • NM_001353961.2:c.-1210G>T
  • NM_006920.6:c.1216G>T
  • NP_001159435.1:p.Val406Phe
  • NP_001159436.1:p.Val406Phe
  • NP_001189364.1:p.Val406Phe
  • NP_001340877.1:p.Val406Phe
  • NP_001340878.1:p.Val406Phe
  • NP_001340879.1:p.Val406Phe
  • NP_001340880.1:p.Val406Phe
  • NP_001340881.1:p.Val406Phe
  • NP_001340883.1:p.Val406Phe
  • NP_001340884.1:p.Val406Phe
  • NP_001340886.1:p.Val406Phe
  • NP_001340887.1:p.Val406Phe
  • NP_001340889.1:p.Val406Phe
  • NP_008851.3:p.Val406Phe
  • LRG_8t1:c.1216G>T
  • LRG_8:g.31709G>T
  • NC_000002.11:g.166903441C>A
  • NM_001165963.1:c.1216G>T
  • NM_006920.4:c.1216G>T
  • NR_148667.2:n.1602G>T
  • P35498:p.Val406Phe
  • AB093548.1:c.1216G>T;p.VAL406PHE
Protein change:
V406F
Links:
UniProtKB: P35498#VAR_064242; UniProtKB/Swiss-Prot: VAR_064242; dbSNP: rs121918768
NCBI 1000 Genomes Browser:
rs121918768
Molecular consequence:
  • NM_001353961.2:c.-1210G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001165963.4:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.1216G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.1602G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090988UniProtKB/Swiss-Prot
no classification provided
not providedgermlinenot provided

PubMed (1)
[See all records that cite this PMID]

SCV000255813Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Apr 17, 2013) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC.

J Med Genet. 2010 Feb;47(2):137-41. doi: 10.1136/jmg.2008.065912. Epub 2009 Jul 8.

PubMed [citation]
PMID:
19589774

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090988.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

From Athena Diagnostics, SCV000255813.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024